Mutagenetix > Incidental Mutations

Incidental Mutation 'R4708:Col27a1'

355399

Institutional Source

Beutler Lab

Gene Symbol

Col27a1

Ensembl Gene

ENSMUSG00000045672

Gene Name

collagen, type XXVII, alpha 1

Synonyms

MMRRC Submission

042017-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4708 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63214004-63334991 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63283913 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 947 (Q947R)

Ref Sequence

ENSEMBL: ENSMUSP00000043816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036300] [ENSMUST00000183913] [ENSMUST00000184067]

Predicted Effect

probably benign
Transcript: ENSMUST00000036300
AA Change: Q947R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000043816
Gene: ENSMUSG00000045672
AA Change: Q947R

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
TSPN	43	223	1.1e-5	SMART
low complexity region	325	343	N/A	INTRINSIC
low complexity region	356	372	N/A	INTRINSIC
low complexity region	428	443	N/A	INTRINSIC
low complexity region	455	467	N/A	INTRINSIC
low complexity region	584	597	N/A	INTRINSIC
Pfam:Collagen	609	670	2.1e-10	PFAM
Pfam:Collagen	666	731	3.7e-10	PFAM
low complexity region	790	808	N/A	INTRINSIC
low complexity region	817	838	N/A	INTRINSIC
low complexity region	858	880	N/A	INTRINSIC
low complexity region	886	910	N/A	INTRINSIC
low complexity region	912	946	N/A	INTRINSIC
Pfam:Collagen	1012	1080	2.8e-8	PFAM
Pfam:Collagen	1033	1103	3e-9	PFAM
Pfam:Collagen	1063	1130	3.4e-9	PFAM
low complexity region	1150	1168	N/A	INTRINSIC
Pfam:Collagen	1207	1281	5.5e-9	PFAM
Pfam:Collagen	1261	1324	8.4e-10	PFAM
Pfam:Collagen	1323	1384	3.8e-12	PFAM
low complexity region	1438	1466	N/A	INTRINSIC
internal_repeat_4	1467	1502	1.5e-7	PROSPERO
internal_repeat_2	1468	1529	1.96e-8	PROSPERO
Pfam:Collagen	1544	1606	2.4e-9	PFAM
COLFI	1644	1845	1.28e-40	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149856

Predicted Effect

probably benign
Transcript: ENSMUST00000183913
AA Change: Q11R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139182
Gene: ENSMUSG00000045672
AA Change: Q11R

Domain	Start	End	E-Value	Type
Pfam:Collagen	1	60	2.7e-12	PFAM
Pfam:Collagen	34	114	6.6e-8	PFAM
Pfam:Collagen	87	163	3.6e-9	PFAM
low complexity region	175	202	N/A	INTRINSIC
low complexity region	214	232	N/A	INTRINSIC
Pfam:Collagen	271	338	9.1e-11	PFAM
Pfam:Collagen	328	388	5.4e-11	PFAM
Pfam:Collagen	387	442	4.5e-10	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000184067
AA Change: Q332R

SMART Domains

Protein: ENSMUSP00000139173
Gene: ENSMUSG00000045672
AA Change: Q332R

Domain	Start	End	E-Value	Type
Pfam:Collagen	23	87	2.1e-8	PFAM
Pfam:Collagen	57	145	8.3e-8	PFAM
Pfam:Collagen	115	200	9.9e-8	PFAM
low complexity region	202	223	N/A	INTRINSIC
low complexity region	243	265	N/A	INTRINSIC
low complexity region	271	295	N/A	INTRINSIC
low complexity region	297	331	N/A	INTRINSIC
internal_repeat_1	337	442	5.17e-20	PROSPERO
Pfam:Collagen	448	515	1.5e-9	PFAM
Pfam:Collagen	478	543	2e-10	PFAM
Pfam:Collagen	502	566	2.5e-9	PFAM
Pfam:Collagen	532	617	4.4e-7	PFAM
Pfam:Collagen	594	660	8.2e-11	PFAM
Pfam:Collagen	649	709	1.4e-10	PFAM
Pfam:Collagen	708	769	2e-12	PFAM
Pfam:Collagen	752	829	5e-8	PFAM
Pfam:Collagen	878	939	2.2e-9	PFAM

Meta Mutation Damage Score

0.0735

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: This gene encodes the alpha-1 subunit of type XXVII collagen, one of the low abundance fibril-forming collagens found in cartilage. The encoded protein forms a homotrimeric triple helical procollagen that undergoes proteolytic processing during fibril formation. Transgenic mice lacking a portion of the collagenous domain in the encoded protein exhibit skeletal abnormalities, chondrodysplasia and die at birth because of a lung defect. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	A	7: 41,611,885	G2D	probably damaging	Het
4930430F08Rik	T	C	10: 100,578,381	I139V	probably benign	Het
4930505A04Rik	T	C	11: 30,454,717	Y62C	probably damaging	Het
4931408C20Rik	A	T	1: 26,684,440	V553D	possibly damaging	Het
Aadacl4	A	C	4: 144,623,329	K385N	probably benign	Het
Abcb4	A	T	5: 8,915,125	T332S	possibly damaging	Het
Aco2	G	A	15: 81,909,916		probably null	Het
Aplf	G	T	6: 87,663,757	S69Y	probably damaging	Het
Arhgap27	A	G	11: 103,333,562		probably benign	Het
B4galnt1	T	A	10: 127,169,815	Y262N	probably damaging	Het
Bag4	C	T	8: 25,769,488	A228T	probably benign	Het
BC017158	A	G	7: 128,274,680	V345A	probably benign	Het
Ccdc62	T	G	5: 123,930,862		probably null	Het
Cd109	T	A	9: 78,672,589	I649K	probably benign	Het
Cd209b	T	C	8: 3,924,215	E99G	probably damaging	Het
Cep290	A	G	10: 100,523,264	K952R	probably benign	Het
Ces2a	A	G	8: 104,737,306	H190R	probably benign	Het
Clec14a	A	G	12: 58,267,703	S378P	probably benign	Het
Dennd3	A	G	15: 73,523,495	T146A	probably damaging	Het
Dpy19l4	T	A	4: 11,277,970	M486L	probably benign	Het
Dysf	C	A	6: 84,097,715	D499E	probably damaging	Het
Eif4enif1	T	G	11: 3,220,323	H125Q	probably damaging	Het
Fam35a	A	G	14: 34,267,833	V372A	probably benign	Het
Fcgbp	A	T	7: 28,094,961	M1197L	probably benign	Het
Fubp3	C	T	2: 31,608,110	T92I	probably benign	Het
Gm19426	T	C	2: 84,743,459		probably null	Het
Gtf2ird2	A	G	5: 134,216,298	H466R	probably damaging	Het
Hdac5	T	C	11: 102,202,193	S573G	probably damaging	Het
Iars2	A	T	1: 185,289,357	M916K	probably benign	Het
Insr	A	T	8: 3,211,346		probably benign	Het
Itgam	T	C	7: 128,101,537	V493A	probably damaging	Het
Ivl	T	A	3: 92,571,750	K336I	probably damaging	Het
Kcng2	A	G	18: 80,322,852	I95T	probably damaging	Het
Lap3	A	G	5: 45,511,138	R431G	probably damaging	Het
Lrrc66	T	C	5: 73,629,662	H115R	probably benign	Het
Morc3	T	C	16: 93,873,238	V767A	probably benign	Het
Mttp	A	G	3: 138,134,098		probably benign	Het
Myo1c	C	T	11: 75,670,030	R770*	probably null	Het
Nat9	G	A	11: 115,183,443	T133M	probably damaging	Het
Nectin4	T	C	1: 171,385,146	I349T	probably benign	Het
Nlrp4a	A	G	7: 26,464,108	E900G	probably benign	Het
Nlrp9c	A	T	7: 26,384,840	M438K	probably benign	Het
Olfr1384	T	A	11: 49,514,389	Y250*	probably null	Het
Olfr1444	A	T	19: 12,861,897	I41F	probably benign	Het
Olfr551	A	T	7: 102,587,836	D302E	probably benign	Het
Parp6	T	C	9: 59,641,769	I507T	probably damaging	Het
Pde6c	G	A	19: 38,180,893	E804K	possibly damaging	Het
Plscr2	A	G	9: 92,291,014	Y203C	probably damaging	Het
Ptprs	A	G	17: 56,428,067	W216R	probably damaging	Het
Rhof	T	A	5: 123,120,391	T126S	probably benign	Het
Riox2	A	G	16: 59,475,682	I49V	probably benign	Het
Tmc6	A	T	11: 117,768,948	C750S	probably benign	Het
Tmem231	C	A	8: 111,933,786		probably benign	Het
Tmem94	T	A	11: 115,786,295	I131N	possibly damaging	Het
Tmx3	T	C	18: 90,521,039		probably null	Het
Tnfrsf21	C	T	17: 43,038,232	T245I	possibly damaging	Het
Ttbk2	C	A	2: 120,739,861	R1201S	probably damaging	Het
Vmn2r102	A	T	17: 19,694,314	M714L	probably benign	Het
Vmn2r109	A	G	17: 20,541,343	L584S	probably damaging	Het
Vmn2r53	T	A	7: 12,601,202	H177L	probably benign	Het
Vnn1	T	A	10: 23,897,352	D92E	probably benign	Het
Zan	T	C	5: 137,446,712	I1762V	unknown	Het
Zbtb20	G	T	16: 43,610,676	A517S	probably damaging	Het
Zfhx4	A	G	3: 5,245,503		probably null	Het
Zfp560	T	C	9: 20,351,918	E54G	possibly damaging	Het
Zfp719	C	T	7: 43,590,232	H415Y	probably damaging	Het
Zmynd11	A	C	13: 9,695,753	V188G	probably damaging	Het

Other mutations in Col27a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Col27a1	APN	4	63300741	splice site	probably benign
IGL01461:Col27a1	APN	4	63224243	missense	probably damaging	1.00
IGL01534:Col27a1	APN	4	63225782	missense	probably benign	0.12
IGL01738:Col27a1	APN	4	63263779	splice site	probably benign
IGL01810:Col27a1	APN	4	63225631	missense	probably benign	0.21
IGL02127:Col27a1	APN	4	63225142	missense	possibly damaging	0.60
IGL02290:Col27a1	APN	4	63225926	missense	probably damaging	1.00
IGL02374:Col27a1	APN	4	63293249	missense	possibly damaging	0.86
IGL02548:Col27a1	APN	4	63318255	splice site	probably benign
IGL02792:Col27a1	APN	4	63315583	missense	unknown
IGL02931:Col27a1	APN	4	63331426	utr 3 prime	probably benign
IGL03107:Col27a1	APN	4	63324632	splice site	probably benign
IGL03121:Col27a1	APN	4	63225209	missense	probably benign	0.26
IGL03334:Col27a1	APN	4	63314722	missense	probably damaging	1.00
R0005:Col27a1	UTSW	4	63225400	missense	probably benign	0.04
R0025:Col27a1	UTSW	4	63275977	missense	probably damaging	1.00
R0141:Col27a1	UTSW	4	63265633	critical splice acceptor site	probably null
R0196:Col27a1	UTSW	4	63224266	missense	probably benign	0.02
R0359:Col27a1	UTSW	4	63314727	critical splice donor site	probably null
R0375:Col27a1	UTSW	4	63225661	missense	probably benign	0.23
R0432:Col27a1	UTSW	4	63225611	missense	possibly damaging	0.87
R0499:Col27a1	UTSW	4	63300741	splice site	probably benign
R0786:Col27a1	UTSW	4	63291578	critical splice donor site	probably null
R0891:Col27a1	UTSW	4	63305183	critical splice acceptor site	probably null
R1239:Col27a1	UTSW	4	63318915	splice site	probably benign
R1297:Col27a1	UTSW	4	63265631	splice site	probably benign
R1299:Col27a1	UTSW	4	63265631	splice site	probably benign
R1322:Col27a1	UTSW	4	63328566	utr 3 prime	probably benign
R1342:Col27a1	UTSW	4	63257114	critical splice donor site	probably null
R1446:Col27a1	UTSW	4	63224803	missense	probably damaging	1.00
R1629:Col27a1	UTSW	4	63329863	utr 3 prime	probably benign
R1644:Col27a1	UTSW	4	63328631	utr 3 prime	probably benign
R1774:Col27a1	UTSW	4	63225713	missense	probably damaging	1.00
R1807:Col27a1	UTSW	4	63331349	utr 3 prime	probably benign
R1952:Col27a1	UTSW	4	63283893	intron	probably null
R1957:Col27a1	UTSW	4	63277794	missense	probably benign	0.03
R1970:Col27a1	UTSW	4	63273117	splice site	probably benign
R2164:Col27a1	UTSW	4	63225424	missense	probably benign	0.21
R3774:Col27a1	UTSW	4	63314726	missense	probably benign	0.00
R4078:Col27a1	UTSW	4	63224432	missense	probably damaging	1.00
R4353:Col27a1	UTSW	4	63225631	missense	probably benign	0.21
R4611:Col27a1	UTSW	4	63293506	missense	probably damaging	1.00
R4884:Col27a1	UTSW	4	63275960	missense	possibly damaging	0.77
R5149:Col27a1	UTSW	4	63331427	utr 3 prime	probably benign
R5411:Col27a1	UTSW	4	63224665	missense	probably damaging	1.00
R5451:Col27a1	UTSW	4	63225239	missense	probably damaging	0.98
R5615:Col27a1	UTSW	4	63281114	missense	probably damaging	0.96
R5657:Col27a1	UTSW	4	63225310	missense	probably damaging	0.97
R5838:Col27a1	UTSW	4	63225528	missense	probably damaging	1.00
R6230:Col27a1	UTSW	4	63224282	missense	probably damaging	1.00
R6326:Col27a1	UTSW	4	63324441	utr 3 prime	probably benign
R6457:Col27a1	UTSW	4	63319464	utr 3 prime	probably benign
R6624:Col27a1	UTSW	4	63225011	missense	probably benign	0.00
R6792:Col27a1	UTSW	4	63317503	missense	unknown
R6848:Col27a1	UTSW	4	63302371	missense	probably benign
R6962:Col27a1	UTSW	4	63319501	utr 3 prime	probably benign
R7053:Col27a1	UTSW	4	63333167	utr 3 prime	probably benign
R7206:Col27a1	UTSW	4	63235346	missense	probably benign	0.29
R7586:Col27a1	UTSW	4	63225041	missense	probably damaging	1.00
R7698:Col27a1	UTSW	4	63225718	missense	possibly damaging	0.78
R7714:Col27a1	UTSW	4	63324486	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGAAGCCACCTAGCTGTAG -3'
(R):5'- AATCCCCTGCTATCGGACAC -3'

Sequencing Primer
(F):5'- GCTGTAGAGCATCTTTGAATTCC -3'
(R):5'- TTGCCCTGGATTGAATAAGGACC -3'

Posted On

2015-10-21